Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2022
[Clinical practice guidelines for Fragile X syndrome].
Аннотация на английскомСтатьяКлинические рекомендацииНазвание и аннотация: Перевод в очереди
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Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Of Medical Genetics Branch Of Chinese Medical Association, Genetic Disease Prevention And Control Group Of Professional Committee For Birth Defect Prevention And Control Of Chinese Preventive Medicine Association, Duan Ranhui, Li Guangxu, Xi Hui, Peng Ying, Wu Lingqian
Аннотация
Fragile X syndrome (FXS) is the most common monogenic form of inherited intellectual disability and autism spectrum disorder (ASD). More than 99% of individuals with FXS are caused by the unstable expansion of CGG repeats located within the 5'-untranslated region of the FMR1 gene. The clinical features of FXS include various degrees of cognitive deficit, physical, behavioral and psychiatric problems. Early treatment and prevention from having further affected children can be guided by molecular genetic testing of the FMR1 gene. The following guideline has combined the relevant research, guidelines and consensus worldwide, and summarized the genetic knowledge and clinical treatment for FXS in order to achieve a standardized diagnosis, treatment and prevention for patients and families affected by this disease.